Angelman syndrome

A genetic syndrome characterized by severe motor and mental retardation, microcephaly, ataxia, jerky limb movements, hyperactivity, seizures, absence of speech, frequent smiling and outbursts of laughter, and unusual facial features, characterized by a large mouth and jaw, an open-mouthed expression, with a great propensity for protruding the tongue.

Angelman syndrome in most cases is due to a chromosome deletion involving loss of material from chromosome region 15q11-q13. The loss is consistently from the mother's contribution of chromosome region 15q11-q13 and is due to a new deletion in most cases.

Deletion of chromosome region 15q11-q13 causes both Angelman syndrome and a separate disorder called Prader-Willi syndrome. However, while the deleted chromosome is of maternal origin in Angelman syndrome, it is the paternal chromosome that is partially deleted in Prader-Willi syndrome. 

Sequencing is the first tier test for this disorder. If no mutation is found we recommend methylation as the second tier test and FISH as the third tier.
 
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis 

Purpose: Confirmation of Clinical Diagnosis
 
ICD-9 Code: 759.89

Test Requisition:
Cytogenetics Requisition

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 7-10 days